Canonical Allele Identifier: CA392268497
Gene: DUOX2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.45103967T>G , CM000677.2:g.45103967T>G GRCh38
NC_000015.9:g.45396165T>G , CM000677.1:g.45396165T>G GRCh37
NC_000015.8:g.43183457T>G NCBI36
NG_009447.1:g.15195A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000389039.11:c.2647A>C MANE Select ENSP00000373691.7:p.Met883Leu
ENST00000389039.10:c.2647A>C ENSP00000373691.6:p.Met883Leu
ENST00000558383.1:n.4378A>C
ENST00000603300.1:c.2647A>C ENSP00000475084.1:p.Met883Leu
NM_014080.4:c.2647A>C NP_054799.4:p.Met883Leu
XM_005254421.2:c.2647A>C XP_005254478.1:p.Met883Leu
NM_001363711.1:c.2647A>C NP_001350640.1:p.Met883Leu
NM_001363711.2:c.2647A>C MANE Select NP_001350640.1:p.Met883Leu
NM_014080.5:c.2647A>C NP_054799.4:p.Met883Leu